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FLASH GENE

Symbol

SCN4A

contributors: mct/npt - updated : 12-01-2016

HGNC name	sodium channel, voltage-gated, type IV, alpha subunit
HGNC id	10591

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS16 congenital myasthenic syndrome, 16 HOKPP2 hypokalemic periodic paralysis HYKPP hyperkalemic periodic paralysis PMC paramyotonia congenita of von Eulenburg
Location	17q23.3      Physical location : 62.015.913 - 62.050.278
Synonym name	sodium channel protein, skeletal muscle alpha-subunit
	voltage-gated sodium channel subunit alpha Nav1.4
	skeletal muscle voltage-dependent sodium channel type IV alpha subunit
Synonym symbol(s)	SCNMA, HYPP, NAC1A, SKM1, Nav1.4

DNA

TYPE	functioning gene
STRUCTURE	34.36 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - NGFR - GH1 ,SCN4A - TK1 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000334 24 - 7805 NP_000325 208 1836 - Bennani-Baiti (1995)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane (4TM) domains of homology
	each with six alpha helical membrane spanning segments
	two cytoplasmic loops

secondary structure

an alpha subunit and a smaller beta subunit

HOMOLOGY

interspecies

homolog to murine Scn4a

Homologene

FAMILY

sodium channel family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

mediating the voltage-dependent sodium ion permeability of excitable membranes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

protein constituent of membrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HYKPP , HOKPP2 , PMC , CMS16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS